先天性筋ジストロフィー症に特異な眼底像をみた1例

Unusual fundus manifestations in a case with congenital muscular dystrophy

　血清および尿中にアミノ酸の特異的な上昇を伴わない，脳回転状脈絡網膜萎縮症に類似した眼底病変を呈する3歳10カ月の福山型先天性筋ジストロフィー症の1例を経験した。本症例は眼所見に関しては脳回転状脈絡網膜萎縮症に類似しているが，水野の提唱するType I,Type IIのいずれにも完全には一致していなかった。

A 3-year-old male child manifested a peculiar fundus lesion simulating gyrate atrophy of the choroid and retina. The patient was earlier diag-nosed as congenital muscular dystrophy (Fukuyama type) based on muscular atrophy associated with severe mental retardation. In the right fundus round, grayish-white lesions were scattered over the central and midperipheral retina. In the pe-riphery, they formed garland-shaped chorioretinal atrophic areas. Extensive laboratory studies showed the serum and urine levels of amino acids to be within normal ranges.